Treacher Collins syndrome (TCS) is a rare genetic condition that changes how the face develops but does not affect intelligence or personality. While the facial features of people with TCS may appear different, their minds, creativity, and abilities remain intact. This syndrome can present unique medical and social challenges, yet with the right care and support, individuals with TCS can thrive. 

First described by British surgeon Edward Treacher Collins in 1900, TCS affects about 1 in 50,000 live births. It is also called mandibulofacial dysostosis, a term that highlights the underdevelopment of facial bones, particularly the jaw, cheekbones, and ears. This article explains what Treacher Collins syndrome is, what causes it, how it is diagnosed and treated, and how people can live well with the condition. 

Treacher Collins syndrome is a genetic disorder that primarily affects the development of bones and soft tissues in the face before birth. The condition ranges in severity, from subtle differences that go unnoticed to more significant craniofacial differences requiring medical intervention. 

Key aspects of TCS: 

• Cause: Mutations in the TCOF1, POLR1C, or POLR1D genes, which are involved in facial bone and tissue development. 

• Inheritance: Often inherited in an autosomal dominant pattern, but about 60% of cases result from new (de novo) mutations. 

• Main characteristics: Underdeveloped cheekbones and midface; small lower jaw and chin (micrognathia); downward-slanting eyes with notches in the lower eyelids (coloboma); small or missing ears (microtia), often leading to hearing loss; and possible cleft palate. 

• Other points: Intelligence is typically normal. Challenges may include breathing, eating, and speech, especially during infancy. 

Treacher Collins syndrome is caused by mutations in the TCOF1, POLR1C, or POLR1D genes, which are essential for normal craniofacial development. These gene mutations disrupt the production of proteins needed for neural crest cells — the cells responsible for forming facial structures. 

Risk factors: 

• Inherited mutations: Around 40% of cases are passed from a parent with TCS in an autosomal dominant pattern. 

• De novo mutations: About 60% occur spontaneously without family history. 

• No environmental causes: TCS is not linked to pregnancy factors or lifestyle choices.

During early fetal development, neural crest cells migrate to form facial structures. In TCS, genetic mutations interfere with this process, leading to underdeveloped bones, ears, and soft tissues. The severity of these changes depends on the specific mutation and its impact on protein function. 

• Occurs in about 1 in 50,000 live births worldwide. 

• Affects males and females equally. 

• No specific ethnic or geographic predilection. 

The appearance of TCS varies widely. Some individuals have only mild features, while others present with more noticeable differences. 

Common signs and symptoms: 

• Underdeveloped cheekbones and jaw, leading to a flatter midface 

• Small or absent ears (microtia) and ear canal abnormalities, often causing conductive hearing loss 

• Downward-slanting eye openings 

• Notches or gaps in lower eyelids (coloboma) 

• Cleft palate (30–40% of cases) 

• Small chin (micrognathia), which may cause feeding or breathing problems in infancy 

• Hairline extending onto the cheeks 

Less common features: 

• Vision problems 

• Dental issues such as crowded or missing teeth 

• Rare cases of spinal or heart abnormalities 

Most diagnoses occur shortly after birth due to distinct facial features. Doctors confirm the diagnosis through: 

• Physical examination of craniofacial features 

• Imaging tests (CT or MRI) to assess bone structure 

• Hearing tests to evaluate ear function 

• Genetic testing to identify mutations in TCOF1, POLR1C, or POLR1D 

Prenatal genetic testing may also be available if TCS is known in the family. 

Differential diagnosis for Treacher Collins Syndrome 

Other conditions with overlapping craniofacial features include: 

• Nager syndrome 

• Miller syndrome 

• Goldenhar syndrome 

• Pierre Robin sequence 

Genetic testing helps distinguish TCS from these syndromes.

There is no cure for TCS, but treatment focuses on addressing specific challenges. A multidisciplinary team is usually involved. 

Treatment approaches: 

• Surgery: Craniofacial reconstruction to rebuild facial bones; cleft palate repair; ear reconstruction 

• Airway support: Tracheostomy or positioning for infants with breathing difficulties 

• Hearing support: Hearing aids or bone-anchored hearing devices 

• Speech therapy: To support communication in children with cleft palate or hearing loss 

• Dental and orthodontic care: To manage jaw and tooth alignment 

• Psychosocial support: Counseling and support groups to address self-esteem and social challenges 

Early intervention significantly improves outcomes, allowing most children with TCS to attend regular schools and live independently.

The severity of complications depends on how much the facial structures are affected. 

Common complications: 

• Breathing problems due to small jaw and airway obstruction 

• Hearing loss from malformed ears and ear canals 

• Feeding difficulties in infancy, especially with cleft palate 

• Speech and dental issues from jaw abnormalities and missing teeth 

• Psychosocial challenges from visible differences, bullying, or self-esteem issues 

With early medical and emotional support, most complications can be managed effectively. 

The long-term outlook for individuals with TCS is generally positive. Intelligence is unaffected, and with medical care, most people live healthy, fulfilling lives. Advances in reconstructive surgery, hearing technology, and speech therapy greatly improve quality of life. Emotional support and inclusive environments help individuals with TCS succeed academically, professionally, and socially. 

While TCS cannot be prevented, families with a history of the condition may benefit from genetic counseling. This provides: 

• Information about inheritance risks 

• Options for prenatal or preimplantation genetic testing 

• Support in family planning decisions 

Life with TCS involves ongoing medical care and emotional resilience. Families often find strength through: 

• Regular follow-up with specialists 

• Early use of hearing and speech therapies 

• Surgical interventions tailored to growth stages 

• Connection with support groups for shared experiences 

• Emotional support to build self-confidence 

Most importantly, TCS affects physical appearance, not intelligence or personality. With proper care, individuals can pursue education, careers, and relationships without limitations. 

Treacher Collins syndrome is a rare but manageable genetic condition that alters facial development without affecting intelligence. Although it presents medical and social challenges, modern treatments provide effective solutions for breathing, hearing, feeding, and appearance. With early interventions, multidisciplinary care, and emotional support, people with TCS can lead healthy, fulfilling lives. 

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2. Trainor PA. Craniofacial birth defects: the role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. Am J Med Genet A. 2010;152A(12):2984-2994. 

3. National Organization for Rare Disorders (NORD). Treacher Collins Syndrome. 

4. Poswillo D. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br J Oral Surg. 1975;13(1):1-26.